Clinical and Genetic Aspects of Verheij Syndrome in Two Cases.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2025-03-25 DOI:10.1159/000545448

Yade Dilay Kursat, Hazal Sezginer Guler, Drenushe Zhuri, Hakan Gurkan, Sinem Yalcintepe

引用次数: 0

Abstract

Introduction: Verheij syndrome is associated with a deletion on chromosome 8q24.3 region or PUF60 gene mutations. A variety of symptoms including feeding problems, microcephaly, joint laxity, intellectual disability, cardiac defects, and renal abnormalities are the characteristic features of the syndrome.

Case presentation: In the current report, 2 cases are presented with Verheij syndrome in different ages. With this study, we aimed to present the clinical findings of a likely pathogenic novel variant in the first case NM_078480.3(PUF60):c.297+1G>C, and in the second case a likely pathogenic heterozygous missense variant NM_078480.3(PUF60):c.47G>T p.(G16V).

Conclusion: A very rare syndrome - Verheij syndrome - is reported in 2 cases with genotype phenotype correlation in this report.

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两例Verheij综合征的临床与遗传学分析。

Verheij综合征与染色体8q24.3区域缺失或PUF60基因突变有关。多种症状包括进食问题、小头畸形、关节松弛、智力障碍、心脏缺陷和肾脏异常是该综合征的特征。病例介绍：本文报告2例不同年龄的Verheij综合征。在这项研究中，我们的目的是在第一例NM_078480.3（PUF60）中提出一种可能致病的新变异的临床发现：c。在第二例中，一种可能致病的杂合错义变异NM_078480.3(PUF60): C。47 g > T p。(G16V)。结论：本文报道了2例基因型表型相关的罕见综合征Verheij综合征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.